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. 2023 Nov 18;14:7498. doi: 10.1038/s41467-023-43400-1

Table 1.

Twenty-eight novel loci identified in the genome-wide meta-analysis of kidney stone disease

CHR Position Lead SNP EA/NEA EAF OR (95% CI) P Gene Replication
1 150958836 rs267733 A/G 0.845 0.92 (0.89–0.95) 2.07×10−8 ANXA9 5.17×10−3 (rs7551686)
1 186651932 rs113831804 A/T 0.022 1.24 (1.16–1.33) 1.09×10−9 PACERR 9.64×10−4 (rs7516899)*
1 205724302 rs823121 A/G 0.438 1.07 (1.05–1.09) 3.48×10−9 SLC41A1 7.56×10−6 (rs41264867)*
1 220082150 rs884127 A/G 0.404 0.92 (0.9–0.95) 8.93×10−12 SLC30A10 3.00×10−4 (rs77145552)*
3 48861058 rs200495345 A/AT 0.943 1.3 (1.22–1.39) 2.67×10−15 PRKAR2A 2.09×10−1 (rs3895736)
3 51100168 rs191107165 A/G 0.048 0.77 (0.71–0.83) 6.55×10−11 DOCK3 3.23×10−5 (rs72964039)*
3 52124388 rs138789058 T/C 0.065 0.84 (0.79–0.89) 8.01×10−10 POC1A 3.23×10−5 (rs72964039)*
4 3744294 rs440318 A/G 0.547 0.94 (0.92–0.96) 2.68×10−8 ADRA2C 1.22×10−3 (rs35867127)*
4 77505067 rs28454965 A/G 0.504 0.93 (0.91–0.96) 1.37×10−9 SHROOM3 2.97×10−4 (rs7664160)*
4 115498457 rs71606723 A/T 0.717 0.9 (0.88–0.93) 3.45×10−16 UGT8 5.13×10−4 (rs9884467)*
5 51165567 rs55672774 T/C 0.362 1.08 (1.05–1.1) 9.31×10−11 ISL1 6.00×10−5 (rs184643180)*
6 32107851 rs3134962 A/G 0.155 0.9 (0.87–0.93) 1.51×10−11 PRRT1 9.37×10−8 (rs4947328)*
6 43804571 rs729761 T/G 0.296 1.08 (1.06–1.11) 1.79×10−10 VEGFA 1.25×10−4 (rs137924211)*
6 50786008 rs2206271 A/T 0.318 1.08 (1.05–1.11) 9.70×10−11 TFAP2B 1.08×10−5 (rs11961359)*
6 101161812 rs1039031 A/G 0.494 1.07 (1.04–1.09) 5.98×10−9 ASCC3 1.09×10−3 (rs12210312)*
7 142605221 rs4252512 T/C 0.985 0.78 (0.71–0.85) 1.88×10−8 TRPV5 1.05×10−2 (rs11520897)
9 71172306 rs12376362 A/C 0.823 1.09 (1.06–1.12) 8.00×10−9 TMEM252 4.22×10−3 (rs71503670)
9 97585477 rs150891531 T/C 0.086 0.88 (0.84–0.91) 8.73×10−10 AOPEP 7.05×10−7 (rs10993151)*
10 9280394 rs17486892 T/C 0.773 1.08 (1.05–1.11) 1.90×10−8 TCEB1P3 2.08×10−4 (rs1243417)*
10 90142203 rs11202736 A/T 0.680 0.93 (0.91–0.95) 2.47×10−9 RNLS 1.90×10−5 (rs11203100)*
13 96175396 rs57719175 A/G 0.400 0.93 (0.91–0.95) 2.05×10−10 CLDN10 4.58×10−4 (rs61152555)*
15 48500263 rs34819316 A/G 0.005 0.54 (0.43–0.67) 4.59×10−8 SLC12A1 2.52×10−4 (rs117970606)*
15 85719783 rs10852147 T/G 0.319 1.07 (1.04–1.09) 4.35×10−8 PDE8A 4.69×10−3 (rs4887181)
16 88549264 rs55637647 C/G 0.650 0.93 (0.91–0.95) 6.50×10−10 ZFPM1 3.68×10−7 (rs8054971)*
17 44025888 rs242559 A/C 0.808 0.92 (0.89–0.94) 4.22×10−9 MAPT 2.11×10−4 (rs197923)*
19 4335513 rs58169740 T/G 0.683 1.07 (1.05–1.1) 6.74×10−9 STAP2 3.55×10−4 (rs58659609)*
19 46181392 rs1800437 C/G 0.227 0.92 (0.9–0.95) 1.02×10−9 GIPR 5.72×10−5 (rs187967034)*
19 53357172 rs7259073 T/C 0.916 1.13 (1.08–1.18) 3.02×10−8 ZNF468 1.09×10−3 (rs11667654)*

The lead SNP is the variant with the smallest P value within each locus. The gene is the nearby protein-coding gene to the lead SNP.

EA effect allele, NEA non-effect allele, EAF frequency of the effect allele, OR Odds ratio, CI confidence interval.

*suggests the variant with the smallest P value at each novel locus in Japanese population passed the significant threshold (0.05/28).